hrp0084p3-816 | Endocrine Oncology | ESPE2015

Von Hippel-Lindau Disease in an Adolescent with a Newly Described Alteration in the VHL Gene

Yuca Sevil Ari , Cimbek Emine Ayca , Sen Yasar , Bugrul Fuat , Kose Dogan , Koksal Yavuz

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by susceptibility to tumours including haemangioblastomas of retina and central nervous system, renal cell carcinoma and phaeochromocytomas. The disease is caused by mutations in the VHL tumour suppressor gene.Objective and hypotheses: We present an adolescent with VHL disease confirmed by genetic analysis which revealed the mutation p. A149P (PCC>GCC), which ...